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9/8/2026 3:29:25 AM | Browse: 0 | Download: 0
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Received |
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2026-03-26 03:44 |
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Peer-Review Started |
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2026-03-26 03:45 |
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First Decision by Editorial Office Director |
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2026-04-02 09:29 |
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Return for Revision |
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2026-04-02 09:29 |
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Revised |
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2026-04-08 06:17 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2026-04-24 02:41 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2026-04-24 13:23 |
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Articles in Press |
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2026-04-24 13:23 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2026-07-15 08:29 |
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Publish the Manuscript Online |
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2026-09-08 03:29 |
| ISSN |
2218-6204 (online) |
| Open Access |
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| Copyright |
©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Hematology |
| Manuscript Type |
Minireviews |
| Article Title |
Molecular pathogenesis and therapeutic advances in haemophilia, an update of the current evidence
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Konstantina Bolou, Zoey Kapsimali, Athina Dettoraki, Katia Michalopoulou, George Triantafyllou, Nektaria Karangeli, Maria Piagkou and Helen Pergantou |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
George Triantafyllou, Department of Anatomy, School of Medicine, Faculty of Health Sciences, National and Kapodistrian University of Athens, 75 Mikras Asias Street, Goudi, Athens 11527, Attikí, Greece. georgerose406@gmail.com |
| Key Words |
Haemophilia A; Haemophilia B; F8 gene; F9 gene; Molecular pathogenesis; Gene therapy; Adeno-associated virus; Non-factor replacement therapy; Emicizumab; Prophylaxis |
| Core Tip |
The current comprehensive review synthesizes the current evidence of molecular pathogenesis of haemophilia A and B, while it presents the therapeutic strategies, their limitations and future directions. Advances in molecular genetics have defined a highly heterogeneous mutational spectrum in F8 and F9, including recurrent inversions, point mutations, small insertions or deletions, and large rearrangements. These variants underlie genotype-phenotype correlations. Therapeutic strategies have evolved from on-demand plasma-derived factor replacement to individualized prophylaxis with standard and extended half-life concentrates. Parallel progress in liver-directed adeno-associated viral gene therapy has enabled sustained endogenous expression of FVIII and FIX following a single infusion, with marked reductions in annualized bleeding rates and factor use. |
| Publish Date |
2026-09-08 03:29 |
| Citation |
Bolou K, Kapsimali Z, Dettoraki A, Michalopoulou K, Triantafyllou G, Karangeli N, Piagkou M, Pergantou H. Molecular pathogenesis and therapeutic advances in haemophilia, an update of the current evidence. World J Hematol 2026; 12(2): 121492
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| URL |
https://www.wjgnet.com/2218-6204/full/v12/i2/121492.htm |
| DOI |
https://doi.org/10.5315/wjh.121492 |
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